We report the results of three years of the population-based, prospective Swiss NeuroPaediatric Stroke Registry (SNPSR) of children (up to 16 years) with childhood arterial ischaemic stroke (AIS1), neonatal stroke (AIS2), or symptomatic sinus venous thrombosis (SVT). Data on risk factors (RF), presentation, diagnostic work-up, localisation, and short-term neurological outcome were collected. 80 children (54 males) have been included, 40 AIS1, 23 AIS2, and 17 SVT. The data presented will be concentrated on AIS. The presentation for AIS1 was hemiparesis in 77% and cerebellar symptoms and seizures in 20%, respectively. AIS2 presented in 83% with seizures and in 38% with abnormality of muscle tone. Two or more RF were detected in 54%, one RF in 35%. The most prominent RF for AIS1 were infections (40%), followed by cardiopathies and coagulopathies (25% each). AIS2 were frequently related to birth problems. Neurological outcomes in AIS1 and AIS2 were moderate/severe in 45 % and 32 %, respectively. The outcome correlated significantly with the size of infarction (p = 0.013) and age at stroke (p = 0.027). The overall mortality was 6%. Paediatric stroke is a multiple risk problem, which leads to important long-term sequelae.

AIM To describe the characteristics of paediatric cerebral sinus venous thrombosis (CSVT) inSwitzerland.METHOD Data on clinical features, neuroimaging, risk factors, and treatment were collected for all children in Switzerland younger than 16 years of age who had CSVT between January 2000 and December 2008. A follow-up examination and a cognitive assessment were performed (mean follow-up period 26mo). Differences between neonates and children (patients older than 28d) were assessed and predictors of outcome were determined.RESULTS Twenty-one neonates (14 males, seven females; mean age 9d, SD 8d) and 44 children (30 males, 14 females; mean age 8y 7mo, SD 4y 5mo) were reported. The incidence of paediatric CSVT in Switzerland was 0.558 per 100 000 per year. In neonates, the deep venous system was more often involved and parenchymal injuries were more common. The strongest predictor of poor outcome was neonatal age (odds ratio 17.8, 95% confidence interval 0. 847-372.353). Most children showed global cognitive abilities within the normal range, but impairments in single cognitive subdomains were frequent.INTERPRETATION Paediatric CSVT is rare. Its outcome is poor in neonates. Most children have good neurological outcomes, but some patients have individual neuropsychological impairments.Cerebral sinus venous thrombosis (CSVT) in children is rare. Based on a Canadian registry, its incidence is 0.67 cases per 100 000 children per year; neonates were the most commonly affected.1 The risk factors in neonates include maternal conditions, delivery complications, and neonatal comorbidities. [1][2][3][4] Older children often use prothrombotic agents such as oral contraceptives or suffer from infections of the head and neck or a chronic systemic illness.5-8 Prothrombotic states are increased in patients who suffer from CSVT.1,9 The superficial venous system is most commonly involved. 1,6,10 Parenchymal injuries, such as ischaemic or haemorrhagic infarcts, are often observed in conjunction with CSVT. [1][2][3]11,12 One-third of term neonates with intraventricular haemorrhage suffer from CSVT. 13Two to 10 per cent of the neonates 2,4 and 11 to 17% of the older children died after CSVT 2,6 . A recurrence of the thrombosis occurred in 6%.10 Thirty-eight per cent of the patients exhibited neurological deficits, such as motor impairment, cognitive problems, or epilepsy.1 The long-term outcome was especially poor in neonates. 1,2,4 In older children who suffered from CSVT, cognitive assessments with standardized and agenormalized tests showed cognitive performance within the normal range, 14,15 but individual impairments were seen in up to 20% of the patients. 14In the present study, we aimed to describe the incidence, clinical manifestation, neuroimaging findings, risk factors, and treatment of children suffering from CSVT in Switzerland. In addition, we systematically assessed outcomes after CSVT and identified predictors of poor outcome. METHOD Participants and data collectionThe Swiss Neuropaediatric Stroke Registry (SNPSR) is a...

After paediatric stroke neuropsychological problems are present in about 75% of children. Younger age at stroke as well as an emergence of epilepsy were predictors for worse prognosis.

We report seven unrelated families with mitochondrial tRNA(Ser(UCN)) gene mutations at three different loci. A novel G7497A mutation is found in two families, both of which present with progressive myopathy, ragged-red fibers, lactic acidosis, and deficiency of respiratory chain complexes I and IV. This mutation presumably affects the tertiary tRNA(Ser(UCN)) dihydrouridine interaction. Mutations 7472 insC and T7512C, found in three and two families, respectively, are associated with myoclonus epilepsy, deafness, ataxia, cognitive impairment, and complex IV deficiency. No ragged-red fibers or ultrastructural abnormalities are seen. It is interesting that 6 of our 7 index patients are apparently homoplasmic, indicating a minor pathogenetic power of the tRNA(Ser(UCN)) mutations.

AIM Complete or subtotal absence of one cerebellar hemisphere is exceptional; only single cases have been described. We aimed to assess the long-term outcome in children with severe unilateral cerebellar hypoplasia (UCH).METHOD As part of a retrospective study we describe neuroimaging features, clinical findings, and cognitive outcomes of seven children with UCH (five males, two females; age at first magnetic resonance imaging [MRI]: median 1y 3mo, range 9d-8y 10mo; age at latest follow-up: median 6y 6mo, range 2y 3mo-14y 11mo).RESULTS One child had abnormalities on prenatal MRI at 21 weeks' gestation. The left cerebellar hemisphere was affected in five children, and the right hemisphere in two children. The vermis was involved in five children. The volume of the posterior fossa was variable. At the latest followup, neurological findings included truncal ataxia and muscular hypotonia in five children, limb ataxia in three patients, and head nodding in two patients. Three children had learning disability*, five had speech and language disorders, and one had a severe behavioural disorder.